BRS Embryo Multifactorial Inherited Diseases - Numerical Chromosomal Anomalies
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- 1.
Multifactorial inherited diseases involve which of the following?
- A.
Only a genetic component
- B.
Only an environmental component
- C.
Both a genetic and environmental component
- D.
Only one dominant gene
- E.
Only one X-linked gene
Correct Answer
C. Both a genetic and environmental componentExplanation
A multifactorial disease involves many genes that have a small, equal, and additive effect
as well as an environmental component.Rate this question:
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- 2.
Type I diabetes is a multifactorial disease that involves which of the following?
- A.
HLA Class I genes
- B.
HLA Class 11 genes
- C.
HLA Class II genes
- D.
HLA Class IV genes
Correct Answer
B. HLA Class 11 genesExplanation
Type I diabetes involve HLA Class II genes. The specific locus is called HLA-DR3 and HLADR4.Rate this question:
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- 3.
NUMERICAL CHROMOSOMAL ANOMALIES Triploidy is a condition in which cells contain
- A.
46 chromosomes
- B.
69 chromosomes
- C.
23 chromosomes
- D.
45 chromosomes
- E.
47 chromosomes
Correct Answer
B. 69 chromosomesExplanation
Triploidy is a condition in which cells contain 69 chromosomes.Rate this question:
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- 4.
Aneuploidy occurs as a result of which of the following?
- A.
Dispermy
- B.
Failure of meiosis in a germ cell
- C.
Failure of the first cleavage division
- D.
Nondisjunction during meiosis
- E.
Trispermy
Correct Answer
D. Nondisjunction during meiosisExplanation
Aneuploidy occurs as result of nondisjunction during meiosisRate this question:
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- 5.
Which of the following aneuploidy situations describes the Klinefelter syndrome?
- A.
Trisomy 13
- B.
Trisomy 18
- C.
Trisomy 21
- D.
(47,XXY)
- E.
(45,X)
Correct Answer
D. (47,XXY)Explanation
Klinefelter syndrome is a trisomic condition found only in males characterized by a
(47,XXY) karyotype.Rate this question:
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- 6.
Which of the following aneuploidy situations describes the Patau syndrome?
- A.
Trisomy 13
- B.
Trisomy 18
- C.
Trisomy 21
- D.
(47,XXY)
- E.
(45,X)
Correct Answer
A. Trisomy 13Explanation
Patau syndrome is a trisomic condition characterized by the presence of an additional chromosome
13.Rate this question:
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- 7.
Which of the following aneuploidy situations describes the Turner syndrome?
- A.
Trisomy 13
- B.
Trisomy 18
- C.
Trisomy 21
- D.
(47,XXY)
- E.
(45,X)
Correct Answer
E. (45,X)Explanation
Turner syndrome is a monosomic condition found only in females characterized by a (45,X)
karyotype.Rate this question:
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- 8.
STRUCTURAL CHROMOSOMAL ABNORMALITIES Cri du chat syndrome is characterized by which of the following?
- A.
Catlike cry
- B.
Greek warrior helmet
- C.
Absence of the thymus gland
- D.
Chromosome 15q11-13 maternal imprinting
- E.
Chromosome 15q11-13 paternal imprinting
Correct Answer
A. Catlike cryExplanation
The cri du chat syndrome is also called cat's cry syndrome because affected children demonstrate a catlike cry.Rate this question:
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- 9.
DiGeorge syndrome is characterized by which of the following?
- A.
Catlike cry
- B.
Greek warrior helmet
- C.
Absence of the thymus gland
- D.
Chromosome 15q11-13 maternal imprinting
- E.
Chromosome 15q11-13 paternal imprinting
Correct Answer
C. Absence of the thymus glandExplanation
DiGeorge syndrome is characterized by immunodeficiency due to the absence of the thymus gland and by hypocalcemia due to the absence of the parathyroid glands.Rate this question:
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- 10.
Prader-Willi syndrome is characterized by which of the following?
- A.
Catlike cry
- B.
Greek warrior helmet
- C.
Absence of the thymus gland
- D.
Chromosome 15q11-13 maternal imprinting
- E.
Chromosome 15q11-13 paternal imprinting
Correct Answer
E. Chromosome 15q11-13 paternal imprintingExplanation
Prader-Willi syndrome involves a microdeletion in chromosome 15q11-13 derived from the
father.Rate this question:
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- 11.
Chronic myeloid leukemia is caused by a reciprocal translocation between band q34 on chromosome 9 and band q11 on chromosome 22. This is referred to as the
- A.
Chicago chromosome
- B.
Boston chromosome
- C.
St. Louis chromosome
- D.
Philadelphia chromosome
- E.
Baltimore chromosome
Correct Answer
D. Philadelphia chromosomeExplanation
The reciprocal translocation t(9;22)(q34;q11) is referred to as the Philadelphia chromosome
and results in a fusion gene called the abl/bcr oncogene.Rate this question:
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- 12.
Which of the following is due to chromosomal breakage caused by sunlight or UV radiation?
- A.
Angelman syndrome
- B.
Fragile X syndrome
- C.
Miller-Dieker syndrome
- D.
Prader-Willi syndrome
- E.
Xeroderma pigmentosum
Correct Answer
E. Xeroderma pigmentosumExplanation
Xeroderma pigmentosum is an autosomal recessive genetic disorder in which affected individuals are hypersensitive to sunlight.Rate this question:
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- 13.
Which of the following is the most common translocation found in humans?
- A.
T(14q21q)
- B.
T(13q14q)
- C.
T(15;17)(q21;q21)
- D.
T(9;22)(q34;q11)
Correct Answer
B. T(13q14q)Explanation
This robertsonian translocation is the most common translocation in humans. Carriers of
this translocation are clinically normal.Rate this question:
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- 14.
Isochromosome Xq is sometimes found in individuals with which of the following syndromes?
- A.
Acute promyelocytic leukemia
- B.
Chronic myeloid leukemia
- C.
Turner syndrome
- D.
Klinefelter syndrome
- E.
Down syndrome
Correct Answer
C. Turner syndromeExplanation
Isochromosome Xq is found in 20% of females with Turner syndrome.Rate this question:
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- 15.
SINGLE-GENE INHERITED DISEASES Leber hereditary optic neuropathy demonstrates which of the following inheritance patterns?
- A.
Mitochondrial inheritance
- B.
X-linked recessive
- C.
Autosomal dominant
- D.
Autosomal recessive
Correct Answer
A. Mitochondrial inheritanceExplanation
Leber hereditary optic neuropathy demonstrates a mitochondrial inheritance pattern.Rate this question:
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- 16.
Duchenne muscular dystrophy demonstrates which of the following inheritance patterns?
- A.
Mitochondrial inheritance
- B.
X-linked recessive
- C.
Autosomal dominant
- D.
Autosomal recessive
Correct Answer
B. X-linked recessiveExplanation
Duchenne muscular dystrophy demonstrates an X-linked recessive inheritance patternRate this question:
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- 17.
Huntington disease demonstrates which of the following inheritance patterns?
- A.
Mitochondrial inheritance
- B.
X-linked recessive
- C.
Autosomal dominant
- D.
Autosomal recessive
Correct Answer
C. Autosomal dominantExplanation
Huntington disease demonstrates an autosomal dominant inheritance pattern.Rate this question:
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- 18.
Which of the following is inherited entirely through maternal transmission?
- A.
Huntington disease
- B.
Cystic fibrosis
- C.
Duchenne muscular dystrophy
- D.
Leber hereditary optic neuropathy
Correct Answer
D. Leber hereditary optic neuropathyExplanation
Leber hereditary optic neuropathy involves a mutation in the ND4 gene located on mitochondrial
DNA. All mitochondrial DNA is inherited only from the mother because sperm (male)
mitochondria do not pass into the ovum at fertilization.Rate this question:
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- 19.
Which of the following genetic diseases involves a mutation in a Cl- channel?
- A.
Huntington disease
- B.
Cystic fibrosis
- C.
Duchenne muscular dystrophy
- D.
Leber hereditary optic neuropathy
Correct Answer
B. Cystic fibrosisExplanation
B. Cystic fibrosis is an autosomal recessive disease that involves a mutation in the CF gene that
encodes for a Cl- channel.Rate this question:
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